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rs587784455

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784455(C;C)
Make rs587784455(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position127663208
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs587784455
ebirs587784455
HLIrs587784455
Exacrs587784455
Varsomers587784455
Maprs587784455
PheGenIrs587784455
hapmaprs587784455
1000 genomesrs587784455
hgdprs587784455
ensemblrs587784455
gopubmedrs587784455
geneviewrs587784455
scholarrs587784455
googlers587784455
pharmgkbrs587784455
gwascentralrs587784455
openSNPrs587784455
23andMers587784455
23andMe allrs587784455
SNP Nexus

SNPshotrs587784455
SNPdbers587784455
MSV3drs587784455
GWAS Ctlgrs587784455
Max Magnitude0
ClinVar
Risk rs587784455(C;C)
Alt rs587784455(C;C)
Reference rs587784455(T;T)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 4
Variation info
Gene STXBP1
CLNDBN Early infantile epileptic encephalopathy 4
Reversed 0
HGVS NC_000009.11:g.130425487T>C
CLNSRC
CLNACC RCV000147709.1,